Crossref journal-article
Elsevier BV
Molecular Therapy (78)
Bibliography

Marquis, J., Meyer, K., Angehrn, L., Kämpfer, S. S., Rothen-Rutishauser, B., & Schümperli, D. (2007). Spinal Muscular Atrophy: SMN2 Pre-mRNA Splicing Corrected by a U7 snRNA Derivative Carrying a Splicing Enhancer Sequence. Molecular Therapy, 15(8), 1479–1486.

Authors 6
  1. Julien Marquis (first)
  2. Kathrin Meyer (additional)
  3. Larissa Angehrn (additional)
  4. Sacha S Kämpfer (additional)
  5. Barbara Rothen-Rutishauser (additional)
  6. Daniel Schümperli (additional)
References 49 Referenced 65
  1. 10.1086/338627 / Am J Hum Genet / Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy by Feldkötter (2002)
  2. 10.1016/S0140-6736(80)90847-8 / Lancet / Classification of spinal muscular atrophies by Pearn (1980)
  3. 10.1002/(SICI)1098-1004(200003)15:3<228::AID-HUMU3>3.0.CO;2-9 / Hum Mutat / An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA) by Wirth (2000)
  4. 10.1016/S0962-8924(02)02371-1 / Trends Cell Biol / SMN-mediated assembly of RNPs: a complex story by Meister (2002)
  5. 10.1016/S0955-0674(02)00332-0 / Curr Opin Cell Biol / The SMN complex, an assemblyosome of ribonucleoproteins by Paushkin (2002)
  6. 10.1101/gad.274403 / Genes Dev / Unique Sm core structure of U7 snRNPs: assembly by a specialized SMN complex and the role of a new component, Lsm11, in histone RNA processing by Pillai (2003)
  7. 10.1002/j.1460-2075.1996.tb00725.x / EMBO J / A novel nuclear structure containing the survival of motor neurons protein by Liu (1996)
  8. 10.1038/71709 / Nat Genet / A mouse model for spinal muscular atrophy by Hsieh-Li (2000)
  9. 10.1093/hmg/9.3.333 / Hum Mol Genet / The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(-/-) mice and results in a mouse with spinal muscular atrophy by Monani (2000)
  10. 10.1073/pnas.94.18.9920 / Proc Natl Acad Sci USA / Inactivation of the survival motor neuron gene, a candidate gene for human spinal muscular atrophy, leads to massive cell death in early mouse embryos by Schrank (1997)
  11. 10.1016/0092-8674(95)90460-3 / Cell / Identification and characterization of a spinal muscular atrophy-determining gene by Lefebvre (1995)
  12. 10.1073/pnas.96.11.6307 / Proc Natl Acad Sci USA / A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy by Lorson (1999)
  13. 10.1093/hmg/8.7.1177 / Hum Mol Genet / A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2 by Monani (1999)
  14. 10.1101/gad.342005 / Genes Dev / Reduced U snRNP assembly causes motor axon degeneration in an animal model for spinal muscular atrophy by Winkler (2005)
  15. 10.1002/bies.20283 / Bioessays / Is spinal muscular atrophy the result of defects in motor neuron processes? by Briese (2005)
  16. 10.1093/hmg/9.2.259 / Hum Mol Genet / An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN by Lorson (2000)
  17. 10.1038/ng854 / Nat Genet / Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1 by Cartegni (2002)
  18. 10.1086/498853 / Am J Hum Genet / Determinants of exon 7 splicing in the spinal muscular atrophy genes, SMN1 and SMN2 by Cartegni (2006)
  19. 10.1073/pnas.160181697 / Proc Natl Acad Sci USA / Htra2-beta 1 stimulates an exonic splicing enhancer and can restore full-length SMN expression to survival motor neuron 2 (SMN2) by Hofmann (2000)
  20. 10.1261/rna.7580704 / RNA / In vivo selection reveals combinatorial controls that define a critical exon in the spinal muscular atrophy genes by Singh (2004)
  21. 10.1093/nar/gkl1050 / Nucleic Acids Res / Modulating role of RNA structure in alternative splicing of a critical exon in the spinal muscular atrophy genes by Singh (2007)
  22. 10.1074/jbc.M200851200 / J Biol Chem / Identification of a cis-acting element for the regulation of SMN exon 7 splicing by Miyajima (2002)
  23. 10.1128/MCB.26.4.1333-1346.2006 / Mol Cell Biol / Splicing of a critical exon of human Survival Motor Neuron is regulated by a unique silencer element located in the last intron by Singh (2006)
  24. 10.1074/jbc.M107632200 / J Biol Chem / Modulation of survival motor neuron pre-mRNA splicing by inhibition of alternative 3′ splice site pairing by Lim (2001)
  25. 10.1073/pnas.0633863100 / Proc Natl Acad Sci USA / Bifunctional antisense oligonucleotides provide a trans-acting splicing enhancer that stimulates SMN2 gene expression in patient fibroblasts by Skordis (2003)
  26. 10.1038/nsb887 / Nat Struct Biol / Correction of disease-associated exon skipping by synthetic exon-specific activators by Cartegni (2003)
  27. 10.1016/j.ymthe.2005.08.022 / Mol Ther / Correction of SMN2 Pre-mRNA splicing by antisense U7 small nuclear RNAs by Madocsai (2005)
  28. 10.1016/j.ymthe.2006.01.012 / Mol Ther / Stimulating full-length SMN2 expression by delivering bifunctional RNAs via a viral vector by Baughan (2006)
  29. 10.1007/s00018-004-4190-0 / Cell Mol Life Sci / The special Sm core structure of the U7 snRNP: far-reaching significance of a small nuclear ribonucleoprotein by Schümperli (2004)
  30. 10.1163/1568558043967472 / Gene Ther Regul / Antisense derivatives of U7 and other small nuclear RNAs as tools to modify pre-mRNA splicing patterns by Asparuhova (2004)
  31. 10.1038/sj.gt.3301550 / Gene Ther / An in vivo reporter system for measuring increased inclusion of exon 7 in SMN2 mRNA: potential therapy of SMA by Zhang (2001)
  32. 10.1093/hmg/11.17.2037 / Hum Mol Genet / hnRNP-G promotes exon 7 inclusion of survival motor neuron (SMN) via direct interaction with Htra2-beta1 by Hofmann (2002)
  33. 10.1093/nar/gkg616 / Nucleic Acids Res / ESEfinder: a web resource to identify exonic splicing enhancers by Cartegni (2003)
  34. 10.1128/MCB.20.17.6287-6299.2000 / Mol Cell Biol / The RNA-binding protein TIA-1 is a novel mammalian splicing regulator acting through intron sequences adjacent to a 5′ splice site by Del Gatto-Konczak (2000)
  35. 10.1093/hmg/11.9.1017 / Hum Mol Genet / A novel association of the SMN protein with two major non-ribosomal nucleolar proteins and its implication in spinal muscular atrophy by Lefebvre (2002)
  36. 10.1093/hmg/6.8.1205 / Hum Mol Genet / The survival motor neuron protein in spinal muscular atrophy by Coovert (1997)
  37. 10.1089/oli.2005.15.284 / Oligonucleotides / Functional analysis of 114 exon-internal AONs for targeted DMD exon skipping: indication for steric hindrance of SR protein binding sites by Aartsma-Rus (2005)
  38. 10.1182/blood-2002-06-1869 / Blood / High-level expression of hemoglobin A in human thalassemic erythroid progenitor cells following lentiviral vector delivery of an antisense snRNA by Vacek (2003)
  39. 10.1093/hmg/ddh051 / Hum Mol Genet / Human tra2-beta1 autoregulates its protein concentration by influencing alternative splicing of its pre-mRNA by Stoilov (2004)
  40. 10.1016/j.cell.2005.06.023 / Cell / RNAi: the nuts and bolts of the RISC machine by Filipowicz (2005)
  41. 10.1093/hmg/10.19.2109 / Hum Mol Genet / Rabies virus glycoprotein pseudotyping of lentiviral vectors enables retrograde axonal transport and access to the nervous system after peripheral delivery by Mazarakis (2001)
  42. 10.1089/hum.2005.16.781 / Hum Gene Ther / Recombinant adeno-associated viral vectors in the nervous system by Burger (2005)
  43. 10.1093/hmg/8.13.2415 / Hum Mol Genet / Double-target antisense U7 snRNAs promote efficient skipping of an aberrant exon in three human beta-thalassemic mutations by Suter (1999)
  44. 10.1093/nar/gkg876 / Nucleic Acids Res / Nucleotide sequence homology requirements of HIV-1-specific short hairpin RNA by Pusch (2003)
  45. 10.1126/science.272.5259.263 / Science / In vivo gene delivery and stable transduction of nondividing cells by a lentiviral vector by Naldini (1996)
  46. 10.1128/JVI.72.12.9873-9880.1998 / J Virol / Self-inactivating lentivirus vector for safe and efficient in vivo gene delivery by Zufferey (1998)
  47. 10.1038/sj.gt.3302440 / Gene Ther / A lentiviral vector encoding the human Wiskott-Aldrich syndrome protein corrects immune and cytoskeletal defects in WASP knockout mice by Charrier (2005)
  48. 10.1093/hmg/9.13.1977 / Hum Mol Genet / Characterization of a nuclear 20S complex containing the survival of motor neurons (SMN) protein and a specific subset of spliceosomal Sm proteins by Meister (2000)
  49. 10.1016/0022-2836(68)90387-2 / J Mol Biol / Small molecular weight monodisperse nuclear RNA by Weinberg (1968)
Dates
Type When
Created 18 years, 3 months ago (May 15, 2007, 10:23 a.m.)
Deposited 5 years, 4 months ago (April 21, 2020, 9:12 p.m.)
Indexed 3 months ago (May 26, 2025, 3:26 a.m.)
Issued 18 years ago (Aug. 1, 2007)
Published 18 years ago (Aug. 1, 2007)
Published Print 18 years ago (Aug. 1, 2007)
Funders 0

None

@article{Marquis_2007, title={Spinal Muscular Atrophy: SMN2 Pre-mRNA Splicing Corrected by a U7 snRNA Derivative Carrying a Splicing Enhancer Sequence}, volume={15}, ISSN={1525-0016}, url={http://dx.doi.org/10.1038/sj.mt.6300200}, DOI={10.1038/sj.mt.6300200}, number={8}, journal={Molecular Therapy}, publisher={Elsevier BV}, author={Marquis, Julien and Meyer, Kathrin and Angehrn, Larissa and Kämpfer, Sacha S and Rothen-Rutishauser, Barbara and Schümperli, Daniel}, year={2007}, month=aug, pages={1479–1486} }